{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T22:20:59Z","timestamp":1771280459467,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,5]],"date-time":"2023-11-05T00:00:00Z","timestamp":1699142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,11,5]],"date-time":"2023-11-05T00:00:00Z","timestamp":1699142400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    By whole exome sequencing, we identified a homozygous c.2086 C\u2192T (p.R696C)\n                    <jats:italic>TERT<\/jats:italic>\n                    mutation in patients who present with a spectrum of variable bone marrow failure (BMF), raccoon eyes, dystrophic nails, rib anomalies, fragility fractures (FFs), high IgE level, extremely short telomere lengths (TLs), and skewed numbers of cytotoxic T cells with B and NK cytopenia. Haploinsufficiency in the other family members resulted in short TL and osteopenia. These patients also had the lowest bone mineral density\n                    <jats:italic>Z<\/jats:italic>\n                    \u2010score compared to other BMF\u2010patients. Danazol\/zoledronic acid improved the outcomes of BMF and FFs. This causative\n                    <jats:italic>TERT<\/jats:italic>\n                    variant has been observed in one family afflicted with dyskeratosis congenita (DC), and thus, we also define a second report and new phenotype related to the variant which should be suspected in severe cases of DC with co\u2010existent BMF, FFs, high IgE level and rib anomalies.\n                  <\/jats:p>","DOI":"10.1111\/bjh.19176","type":"journal-article","created":{"date-parts":[[2023,11,5]],"date-time":"2023-11-05T18:49:58Z","timestamp":1699210198000},"page":"1086-1095","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A rare homozygous variant in\n                    <scp>\n                      <i>TERT<\/i>\n                    <\/scp>\n                    gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum\n                    <scp>IgE<\/scp>"],"prefix":"10.1111","volume":"204","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5487-9493","authenticated-orcid":false,"given":"Mahmoud I.","family":"Elbadry","sequence":"first","affiliation":[{"name":"Division of Haematology, Department of Internal Medicine, Faculty of Medicine Sohag University  Sohag Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2409-0517","authenticated-orcid":false,"given":"Ahmed","family":"Tawfeek","sequence":"additional","affiliation":[{"name":"Department of Clinical and Chemical Pathology, Faculty of Medicine Sohag University  Sohag Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3486-7115","authenticated-orcid":false,"given":"Tomonori","family":"Hirano","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1943-8419","authenticated-orcid":false,"given":"Mohamed A.","family":"El\u2010Mokhtar","sequence":"additional","affiliation":[{"name":"Department of Medical Microbiology and Immunology, Faculty of Medicine Assiut University  Asyut Egypt"},{"name":"Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1105-5694","authenticated-orcid":false,"given":"Mohamed","family":"Kenawey","sequence":"additional","affiliation":[{"name":"Orthopedic Surgery Department, Faculty of Medicine Sohag University  Sohag Egypt"},{"name":"Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed M.","family":"Helmy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine Sohag University  Sohag Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7778-5374","authenticated-orcid":false,"given":"Seishi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology Kyoto University  Kyoto Japan"},{"name":"Institute for the Advanced Study of Human Biology (WPI\u2010ASHBi) Kyoto University, Yoshida\u2010Konoe\u2010cho, Sakyo\u2010ku  Kyoto Japan"},{"name":"Department of Medicine, Centre for Hematology and Regenerative Medicine Karolinska Institute  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-5663","authenticated-orcid":false,"given":"M. Zulf","family":"Mughal","sequence":"additional","affiliation":[{"name":"Pediatric Bone Disorders Al Jalila Children\u2019s Speciality Hospital  Dubai UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6526-0992","authenticated-orcid":false,"given":"Yasuhito","family":"Nannya","sequence":"additional","affiliation":[{"name":"Department of Pathology and Tumor Biology Kyoto University  Kyoto Japan"},{"name":"Division of Hematopoietic Disease Control The Institute of Medical Science, The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,5]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07598.x"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/imj.12868"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2017.117"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa042980"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.01.010"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-062851"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10496"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0811-x"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-12-754796"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psyneuen.2018.10.005"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0385-x"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01221708"},{"issue":"4","key":"e_1_2_13_14_1","first-page":"423","article-title":"Can telomere length predict bone health? 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